Not so smooth...

The girls and Tom have been skiing for the last six Saturdays. I have been shopping, cleaning, exercising, sleeping and even once I was watching them ski. But I never ski. I have a bad neck. I have a spare tire. I have a baby. What I really have is a lot of excuses. So yesterday, I skied. Tom said I learned four weeks of lessons in one trip down the hill. Sounds okay until you hear how I got to the top of the hill... No instruction was given to me by my (not so) darling hubby. And he sent Alix with me. She was really excited about going with me (until we hit the top). We got on okay. The view is great. We're half way up and I realize I don't know how to get off. (Should have thought of that before I got on...) So Brooke is behind us, yelling instructions to me (she's nicer than Tom...) that I can't really hear and we get to the top. Apparently you just stand up and then ski down this little hill. Well, Alix told me I had to help her. Help her? I can't even help myself! We stood up too late and I totally knocked us both down. My ski came off, Alix banged her head on the snow. The guy came running over to save us and three other skiers crashed around us while trying to avoid the pile up. Tom, Erin and Brooke were laughing like crazy. So were about 15 other skiers. Awesome. I tried blaming it on the four year old, but it was quickly obvious that she is a better skier than I... Round two. No Alix at least. The guy at the top saw me coming and started laughing... Not a good sign. I did manage to fall again, but I think it was a much more graceful fall... It was a great day, and I really did do okay as long as I was far from the top of the chairlift. Oh - and Alix has said she will NEVER ride the chairlift with me again...

Update on Sam...

This gets complicated, so consider yourselves warned...

We got the results of Sam's muscle biopsy on the 19th. It took so long because the dr. was waiting for her next visit as it really is complicated and this is what the results looked like to me... asl;dkfjoiewatowitwo4uoiwfsldknfsdnv. Not even close to english... So, here's the scoop... You eat something, it goes to your stomach, it goes to your GI tract and is then absorbed into your cells. From there, it is absorbed into your mitochondria, which have five components that each make ATP, which is stored energy. Sam's #2 component is only making 12% (out of 100) of the energy it should. Her 2 -3 connection is only making 18% and her #4 is making 25%. The rest are in the 50-70% range. No wonder the girls is tired all the time! So she isn't making the stored energy that she needs. She gets it all from the food that she eats and doesn't have reserves. Now that we know the specific parts that aren't working, they have prescribed for her a vitamin cocktail that will help improve the specific components. They told us over and over again that the vitamins aren't a cure, they just treat the symptoms. We should see a marked improvement with her tiredness, her running into walls (she can't see well when she's "low energy"), she hopefully will be able to handle sickness better and she should show improvement with her coordination and things like that. They advised us to give her Gatorade instead of water and just that alone has increased her energy. It's hard to see her as not normal a lot of the time, but watching her actually have energy to run around was amazing to see. I'm excited to see what the actual vitamins will do. We have had to find a compounding pharmacy to make the vitamins for her and she should start them on Monday. I'll keep you posted... Here are some scary statistics - mitochondrial disease has the same mortality rate as childhood cancer. 50% of kids diagnosed before the age of 5 will die before they are 20. Same is mild right now and we are so blessed to already have a diagnosis. Most kids aren't diagnosed until 4-5 and they are very sick. I don't know if the vitamins will help her to be healthy longer, but they sure can't hurt! Her specialist said that we can't predict what her outcome will be or what her lifespan will be. There are a lot of factors (such as illness or growth) that can effect how her mitochondria function. So we will just wait and watch give her Gatorade (the other girls are NOT happy about drinking water these days...). Sam is the sweetest thing and we are so blessed that she is with us. We are not afraid or even stressed out right now. She's doing great and so are we!

Sorry this was so long. I did warn you that it was complicated! If you have any questions, feel free to ask. We aren't sensitive at all. There is a lot we don't know or understand yet, but I will do the best I can to answer...

Quote of the Day...

As Brooke was devastated by my refusal to buy her $45 Twinkle Toe shoes...

Brooke - "Olivia (her friend) has all kinds of awesome shoes. It's not fair!
me - "Oh sweetie, I'm sorry. Both of her parents work and so she doesn't see her mom a lot, but they have more money for fun shoes. I stay home and you get to see me every day after school and whenever you need, but that means we have to be careful with our money..."
Brooke - "Yeah? I'd rather have the shoes!"

Nice to know I'm appreciated. But I do understand crying over great shoes!

Quote of the Day...

On Sunday as I was changing clothes like a maniac, trying to find something I felt good in...

me: "I'm fat and I can't do anything about it before church!"
Tom: "Mmmm... I'm bald and can't do anything about it before church either..."

Sort of took the wind right out of my sails... And don't we sound like the most beautiful couple ever?

This is why I love great shoes... My feet always look awesome!